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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Nature Genetics volume 33, pages 2122 (2003) | Download Citation

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Abstract

Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

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Acknowledgements

We thank D. Mavrogianni, I. Jibreel, F. Daraio and P. Porporato for technical support. We also thank the individuals with hemochromatosis and their families for their participation. This work was supported by grants from Telethon ONLUS Foundation, European Community and Italian Ministry of Instruction and University (to C.C.) and from the University of Athens (to D.L.).

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Author notes

    • Antonella Roetto
    •  & George Papanikolaou

    These authors contributed equally to this work.

Affiliations

  1. Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.

    • Antonella Roetto
    • , Federica Alberti
    •  & Clara Camaschella
  2. First Department of Medicine, University of Athens School of Medicine, Laikon Hospital, 11527 Athens, Greece.

    • George Papanikolaou
    • , Marianna Politou
    •  & Dimitris Loukopoulos
  3. Department of Clinical and Experimental Medicine, University of Verona, Verona, Italy.

    • Domenico Girelli
  4. Department of Hematology, Theagenio Cancer Center, Thessaloniki, Greece.

    • John Christakis

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Competing interests

The authors declare no competing financial interests.

Corresponding author

Correspondence to Clara Camaschella.

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DOI

https://doi.org/10.1038/ng1053